Abstract
No public abstract is available from the verified source records.
Mojdeh Salehi Namini, Sayed Ali Reza Mousavi, Asad Kazemi
Abstract
Authors
Institutions
Provenance
crossref
Confidence 100%
openalex
Confidence 95%
datacite
Confidence 0%
No local reference links have been materialized yet.
No local citing links have been materialized yet.
Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3)
10.1002/ana.24815 · 2016
Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis
10.1523/jneurosci.3081-17.2018 · 2018
Cerliponase alfa for CLN2 disease, a promising therapy
10.1080/21678707.2020.1856654 · 2020
CLN8 Mutations presenting with a phenotypic continuum of neuronal ceroid lipofuscinosis—literature review and case report
10.3390/genes12070956 · 2021
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
10.3389/fped.2024.1379254 · 2024
Experimental therapeutic approaches for the treatment of retinal pathology in neuronal ceroid lipofuscinoses
10.3389/fneur.2022.866983 · 2022
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
10.1007/s00018-021-03813-x · 2021
Deciphering the role of microglia in kufs disease/CLN4: insights from transgenic mouse models expressing mutant forms of CSPΑ/DNAJC5
10.1016/j.ibneur.2023.08.346 · 2023
Self-complementary AAV9 gene delivery partially corrects pathology associated with juvenile neuronal ceroid lipofuscinosis (CLN3)
10.1523/jneurosci.1635-16.2016 · 2016
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
10.1093/hmg/dds089 · 2012
Oxidative stress and neurodegeneration: the yeast model system
10.2741/4171 · 2013
Case report: the window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy
10.3389/fgene.2025.1622185 · 2025
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
10.1016/j.bbadis.2019.165571 · 2020
Gene therapy approaches for lysosomal storage disease: next-generation treatment
10.1089/hum.2012.140 · 2012
Expressing transgenes that exceed the packaging capacity of adeno-associated virus capsids
10.1089/hgtb.2015.140 · 2016
Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: results from a Phase 1/2 study
10.1016/j.clim.2018.09.003 · 2018
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
10.2217/clp.11.70 · 2012
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
10.1007/s00415-016-8111-6 · 2016
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses
10.1080/14712598.2018.1492544 · 2018
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
10.1016/j.nbd.2011.02.009 · 2011
Mammalian cyclic nucleotide phosphodiesterases: molecular mechanisms and physiological functions
10.1152/physrev.00030.2010 · 2011
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
10.1016/j.ymgme.2010.09.007 · 2011
Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared with a natural history cohort
10.3174/ajnr.a8408 · 2024
Gemfibrozil and fenofibrate, food and drug administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile batten disease therapy
10.1074/jbc.m112.365148 · 2012
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
10.1016/j.nbd.2004.03.005 · 2004
The neuronal ceroid lipofuscinoses: a case-based overview
10.1055/s-0036-1582222 · 2016
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis
10.1093/brain/awt020 · 2013
The neuronal ceroid-lipofuscinoses
10.1093/jnen/62.1.1 · 2003
NCL Disorders: common causes of dementia in children: a case report
2023
Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: a 10-year case report and case-based review
10.1097/md.0000000000040248 · 2024
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
10.1093/brain/awz377 · 2020
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
10.1016/j.ymgme.2018.03.007 · 2018
Neuronal ceroid lipofuscinoses
10.1016/j.bbamcr.2008.11.004 · 2009
Sustained neural stem cell-based intraocular delivery of CNTF attenuates photoreceptor loss in the nclf mouse model of neuronal ceroid lipofuscinosis
10.1371/journal.pone.0127204 · 2015
Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord
10.3389/fnmol.2021.695937 · 2021
Novel gene variations in early-onset frontotemporal dementia with positive family history of neural ceroid lipofuscinosis-1
10.1212/cpj.0000000000000134 · 2015
Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease
10.3389/fgene.2023.1118649 · 2023
Inhibitory effect of curcumin on nitric oxide production from lipopolysaccharide-activated primary microglia
10.1016/j.lfs.2006.06.048 · 2006
The molecular biology of memory: CAMP, PKA, CRE, CREB-1, CREB-2, and CPEB
10.1186/1756-6606-5-14 · 2012
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression
10.1038/gt.2017.4 · 2017
Adeno-associated virus vectors: principles, practices, and prospects in gene therapy
10.3390/v17020239 · doi-reference
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets
10.1038/s41582-025-01132-4 · doi-reference
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood
10.1038/86554 · doi-reference
Neuronal ceroid lipofuscinosis—concepts, classification, and avenues for therapy
10.1111/cns.70261 · doi-reference
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
10.1212/wnl.0b013e31825f0547 · doi-reference
Adeno-associated virus (AAV) gene therapy for neurological disease
10.1016/j.neuropharm.2012.03.004 · doi-reference
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
10.1097/gim.0b013e318211a7e1 · doi-reference
Adeno-associated virus vector as a platform for gene therapy delivery
10.1038/s41573-019-0012-9 · doi-reference
Glial dysfunction and its contribution to the pathogenesis of the neuronal ceroid lipofuscinoses
10.3389/fneur.2022.886567 · doi-reference
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
10.1016/j.ajhg.2012.05.023 · doi-reference
Neuronal ceroid lipofuscinosis: potential for targeted therapy
10.1007/s40265-020-01440-7 · doi-reference
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 Gene
10.1089/hum.2012.253 · doi-reference
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis
10.1089/hgtb.2012.120 · doi-reference
Synergistic effects of treating the spinal cord and brain in CLN1 disease
10.1073/pnas.1701832114 · doi-reference
CNS-Expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis
10.2353/ajpath.2010.091267 · doi-reference
Implications of AAV serotypes in neurological disorders: current clinical applications and challenges
10.3390/ctn9030032 · doi-reference
TFEB links autophagy to lysosomal biogenesis
10.1126/science.1204592 · doi-reference
Immunosuppression alters disease severity in juvenile Batten disease mice
10.1016/j.jneuroim.2010.08.024 · doi-reference
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
10.1016/s1474-4422(23)00384-8 · doi-reference
NCL diseases—clinical perspectives
10.1016/j.bbadis.2013.04.008 · doi-reference
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant
10.1002/ana.20187 · doi-reference
Study of Intraventricular Cerliponase Alfa for CLN2 disease
10.1056/nejmoa1712649 · doi-reference
Neuroprotection and lifespan extension in Ppt1-/- mice by NtBuHA: therapeutic implications for INCL
10.1038/nn.3526 · doi-reference
A gene network regulating lysosomal biogenesis and function
10.1126/science.1174447 · doi-reference
AAV-mediated gene therapy for research and therapeutic purposes
10.1146/annurev-virology-031413-085355 · doi-reference
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
10.1186/s13023-022-02288-8 · doi-reference
Advances in the treatment of neuronal ceroid lipofuscinosis
10.1080/21678707.2019.1684258 · doi-reference
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis
10.1007/s10545-011-9446-x · doi-reference
Northern epilepsy, a new member of the NCL family
10.1007/s100720070039 · doi-reference
Human NCL neuropathology
10.1016/j.bbadis.2015.05.007 · doi-reference
Case Report: novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
10.3389/fgene.2022.807515 · doi-reference
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis
10.1007/s11011-024-01341-8 · doi-reference
An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model
10.15252/emmm.202215968 · doi-reference
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
10.1002/humu.21527 · doi-reference
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
10.1093/hmg/ddr306 · doi-reference
A novel CLN6 variant associated with juvenile neuronal ceroid lipofuscinosis in patients with absence of visual loss as a presenting feature
10.3389/fgene.2021.746101 · doi-reference
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
10.1016/s2352-4642(18)30179-2 · doi-reference
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom
10.1186/s13023-025-03747-8 · doi-reference
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
10.1016/s1474-4422(18)30368-5 · doi-reference
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
10.1053/ejpn.2000.0429 · doi-reference